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Sisli Etfal Hastanesi Tip Bulteni 2023Holt-Oram syndrome (HOS) is characterized by upper-limb defects and congenital heart malformation, and its prevalence is very rarely. Mature cystic teratoma is the most...
Holt-Oram syndrome (HOS) is characterized by upper-limb defects and congenital heart malformation, and its prevalence is very rarely. Mature cystic teratoma is the most common tumor seen in neonates and its most common location is sacrococcygeal region. Diagnosis of a sacrococcygealteratoma should be confirmed by pathology. Surgical resection is the mainstay therapeutic approach of this tumor. Some malformations such as genitourinary system, musculoskeletal anomalies, neural defects, cardiovascular anomalies, and pulmonary disorders associated with this tumor have been reported. Herein, we reported a male neonate diagnosed with HOS associated with sacrococcygealteratoma. To our knowledge, it has been not reported a case with HOS associated with sacrococcygealteratoma. Patients with sacrococcygealteratomas (SCTs) may have multiple and extreme congenital abnormalities; therefore, patients with SCTs should be carefully evaluated clinically, laboratory, and radiologically and it should be also considered that HOS may accompany them.
PubMed: 38268646
DOI: 10.14744/SEMB.2022.02359 -
Laboratory Investigation; a Journal of... Nov 2020In adults, both immature and mature ovarian teratomas show frequent genetic homozygosity consistent with tumorigenesis involving germ cells after meiosis I....
In adults, both immature and mature ovarian teratomas show frequent genetic homozygosity consistent with tumorigenesis involving germ cells after meiosis I. Investigation into genetic zygosity of various teratomas in children has been limited. Thirteen sacrococcygeal, 12 ovarian, and 3 testicular teratomas in children 18 years or younger were retrieved from our departmental archives and histologically reviewed. Tumor and paired normal tissues were microdissected and subjected to short tandem repeat (STR) genotyping. DNA genotyping was informative in 12 sacrococcygeal teratomas, 8 ovarian teratomas, and 3 testicular teratomas. Sacrococcygeal teratomas included seven mature teratomas, four immature teratomas, and one mixed germ cell tumor with patient age ranging from 0 days to 3 years. All but two patients were female. Ovarian teratomas included five mature and three immature teratomas with patient age ranging from 2 to 18 years. Testicular teratomas included two mature teratomas and one immature teratoma with patient age ranging from 3 months to 3 years. All sacrococcygeal, testicular, and ovarian teratomas in patients younger than 4 years showed no evidence of genetic homozygosity by STR genotyping. In contrast, all four ovarian teratomas in patients older than 9 years showed either partial or complete homozygosity. In conclusion, unlike adolescent and adult ovarian teratomas, prepubertal sacrococcygeal and gonadal teratomas lack genetic homozygosity, supporting the hypothesis that teratomas before puberty develop at an early stage of germ cell development different from that of teratomas in adolescents and adults.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Microsatellite Repeats; Ovarian Neoplasms; Ovary; Sacrococcygeal Region; Teratoma; Testicular Neoplasms; Testis
PubMed: 32694569
DOI: 10.1038/s41374-020-0468-6 -
Romanian Journal of Morphology and... 2022Sacrococcygeal teratomas (SCTs) are rare congenital tumors. With the improvement of diagnostic imaging methods and follow-up protocols in pregnancies, in utero detection... (Review)
Review
Sacrococcygeal teratomas (SCTs) are rare congenital tumors. With the improvement of diagnostic imaging methods and follow-up protocols in pregnancies, in utero detection of these tumors has increased. Despite these progresses, SCTs may present difficulties in establishing in utero diagnosis and subsequent management. We present two cases of SCT in 18 weeks, respectively 22 weeks pregnancy, diagnosed using ultrasound imaging and pathologically confirmed. Also, the article aims to recapitulate clinicopathological aspects and prognosis of these lesions, following the review of the literature.
Topics: Female; Gestational Age; Humans; Pelvic Neoplasms; Pregnancy; Prenatal Diagnosis; Sacrococcygeal Region; Spinal Neoplasms; Teratoma; Ultrasonography, Prenatal
PubMed: 36074685
DOI: 10.47162/RJME.63.1.22 -
Journal of Medical Case Reports Jun 2020Sacrococcygeal teratoma is one of the most frequently prenatally diagnosed neoplasias. Obstetric ultrasound has a role in the diagnosis and management of these tumors...
BACKGROUND
Sacrococcygeal teratoma is one of the most frequently prenatally diagnosed neoplasias. Obstetric ultrasound has a role in the diagnosis and management of these tumors during pregnancy. In this report, we describe a multidisciplinary approach in a case of a patient with sacrococcygeal teratomas and preterm delivery, as well as postnatal outcomes.
CASE PRESENTATION
A 26-year-old Caucasian woman at 20.3 weeks of gestation with a normal gestational course and no relevant medical or surgical history was referred to our institution with a sacrococcygeal mass diagnosis. Magnetic resonance imaging confirmed the diagnosis of sacrococcygeal teratoma type I according to the Altman classification. Follow-up with ultrasound showed an increase in the size of the mass up to 190 × 150 mm, high Doppler flow, and severe polyhydramnios. At 35.1 weeks of gestation, the patient had premature rupture of membranes, and an emergency cesarean section was performed due to recurrent late decelerations detected by fetal heart rate monitoring. Afterward, surgery was performed successfully at 36 hours of life. Posterior controls revealed normal and healthy child growth.
CONCLUSIONS
This case report demonstrates the importance of a multidisciplinary approach to offer the best neonatal outcomes by performing early surgery, as well as the need for follow-up by ultrasound in order to minimize complications by assessing mass growth, Doppler flow, and amniotic fluid.
Topics: Adult; Cesarean Section; Female; Fetal Membranes, Premature Rupture; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Patient Care Team; Pregnancy; Premature Birth; Prenatal Diagnosis; Sacrococcygeal Region; Teratoma; Ultrasonography, Prenatal
PubMed: 32552844
DOI: 10.1186/s13256-020-02395-9 -
Journal of Indian Association of... 2020Neonatal tumors (NTs) include a group of diverse neoplasms. In this study, we reviewed our data for clinical presentations, management options, and outcome.
AIMS
Neonatal tumors (NTs) include a group of diverse neoplasms. In this study, we reviewed our data for clinical presentations, management options, and outcome.
MATERIALS AND METHODS
All patients from 0- to 1-month age presenting with solid tumors, from 2006 to 2018 were studied. The gender, presentation, location, type of tumor, and management were analyzed. The final diagnosis was made with histopathology in all cases. Hemangiomas and lymphangiomas were excluded from the study.
RESULTS
A total of 32 neonates were studied. The most common tumor was sacrococcygeal teratoma (SCT,16) followed by teratoma at other sites including two cases of fetus-in-fetu, soft-tissue sarcoma (STS, 4), mesenchymal hamartoma (2), hemangioendothelioma (2), and other rare tumors. Three tumors were diagnosed antenatally; of whom, two were neither visible externally nor palpable. Complete surgical excision was done for all except in a case of ovarian cyst where near-total cystectomy was done. No patient received chemotherapy or radiotherapy. Six patients had postoperative complications, including two who had local recurrence requiring excision. There was one mortality. All the other patients are doing well during follow-up.
CONCLUSION
NTs have varied presentations. SCT and STS were the most common benign and malignant tumor, respectively. Early diagnosis and complete surgical excision are often curative for all, regardless of the pathology with the minimal role of chemotherapy or radiotherapy.
PubMed: 32139986
DOI: 10.4103/jiaps.JIAPS_241_18 -
World Journal of Clinical Cases Aug 2020Augmentation cystoplasty is indispensable in many pediatric diseases, especially neurogenic bladder. Various methods and materials are used to augment the bladder, and...
BACKGROUND
Augmentation cystoplasty is indispensable in many pediatric diseases, especially neurogenic bladder. Various methods and materials are used to augment the bladder, and these methods are associated with different shortcomings and complications.
AIM
The present study reported the mid-term outcomes of patients undergoing various bladder augmentation procedures in a single institution, and assessed whether seromuscular cystoplasty lined with urothelium (SCLU) provided better urodynamic results than auto-augmentation (AA).
METHODS
A retrospective review of 96 patients undergoing various augmentation methods between 2003 and 2018 was performed. The patients were divided into three groups according to the type of augmentation, and their outcomes were compared. All patients developed neurogenic bladder due to myelomeningocele or sacrococcygeal teratoma. The clinical data of all patients were collected.
RESULTS
The mean ages at surgery in the three groups (standard cystoplasty [SC], SCLU, AA) were 10.8, 7.5, and 4.8 years, respectively, with mean follow-ups of 36, 61, and 36 mo, respectively. The mean preoperative and postoperative bladder capacities of the SC, SCLU, and AA groups were 174 ± 11.7 . 387 ± 13.7 ( < 0.0001), 165 ± 12.2 240 ± 14.7 ( = 0.0002), and 138 ± 16.7 181 ± 9.9 ( = 0.0360), respectively. Compared with the AA group, the SCLU procedure did not have better postoperative urodynamic parameters. Incontinence was reduced in most patients. The mean times of clean intermittent catheterization per day in the SC, SCLU, and AA groups were 5.6, 7.8, and 8.2, respectively. The main complications of the SC group were recurrent urinary tract infections (8%) and bladder calculi (6%). Re-augmentation was done in patients in the SCLU (8) and AA (3) groups.
CONCLUSION
SC provided sufficient bladder capacity and improved compliance with acceptable complications. After AA and SCLU, the patients acquired limited increases in bladder capacity and compliance with a high rate of re-augmentation. Compared with AA, SCLU did not yield better postoperative urodynamic parameters.
PubMed: 32874978
DOI: 10.12998/wjcc.v8.i15.3240 -
Acta Dermato-venereologica Sep 2022
Topics: Humans; Infant, Newborn; Sacrococcygeal Region; Teratoma
PubMed: 35971828
DOI: 10.2340/actadv.v102.3934 -
Human Genome Variation Nov 2020Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de...
Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.
PubMed: 33298910
DOI: 10.1038/s41439-020-00124-8 -
Acta Medica Lituanica 2023Sacrococcygeal teratoma (SCT) occurs in approximately 1 per 20,000-40,000 births and is the most frequently encountered fetal teratoma, with 75% of cases observed in...
Sacrococcygeal teratoma (SCT) occurs in approximately 1 per 20,000-40,000 births and is the most frequently encountered fetal teratoma, with 75% of cases observed in female fetuses. SCT can be detected on ultrasound as early as the first trimester, presenting as a large mass originating from the sacrococcygeal area, with or without an intrapelvic component. The prenatal course for most fetuses with SCT is generally uneventful, with only a few cases experiencing obstetric and fetal complications. We present the case of a 19-year-old woman who was in good health and had no relevant family or medical history. She was gravida 2 and para 1. During the first trimester scan, an examination revealed a heterogeneous mass in the presacral area with a predominantly multicystic appearance, measuring 12 mm in diameter. At 21+6 weeks of gestation, the Type 2 fetal SCT showed an increase in volume with the size of 49×37×36 mm and contiune to increase in size. The male fetus was delivered by elective Cesarean section at 38 weeks of gestation. The resection of the tumor and coccyx was performed when the newborn was 7 days old. The tumor measured 190×160×100 mm and weighed 1100 g. Pathological examination confirmed the diagnosis of a mature teratoma (Grade 0), and the resection margins were negative. Our case report highlights a fetus with a large and rapidly growing SCT, yet the outcome was excellent.
PubMed: 38516509
DOI: 10.15388/Amed.2023.30.2.13 -
Case Reports in Pathology 2021Sacrococcygeal teratomas (SCT) are most commonly seen in infants and children but are rare in adults. Most adult SCT are benign and mature with a minority of tumors...
Sacrococcygeal teratomas (SCT) are most commonly seen in infants and children but are rare in adults. Most adult SCT are benign and mature with a minority of tumors having immature components or overt malignancy. Here, we report a 65-year-old female with a SCT developing adenocarcinoma. The patient was diagnosed with benign sacrococcygeal cystic teratoma on her initial hospital visit and was treated with surgical resection. She was followed up postoperatively and was noted to have a markedly elevated CA 19-9 level 13 months after the surgery. Radiological and clinical examination revealed thickening of the perirectal soft tissues, located near the inferior portion of her previous incision site. Histological evaluation of the lesion showed invasive, moderately differentiated adenocarcinoma. Immunohistochemical staining results were suggestive, but not diagnostic, of anal gland adenocarcinoma. This case report expands the knowledge regarding an adenocarcinoma arising from a previously benign, adult SCT.
PubMed: 34873455
DOI: 10.1155/2021/5045250